UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    McLachlan S, Giambartolomei C, White J, Charoen P, Wong A, Finan C, Engmann J, Shah T, Hersch M, Podmore C, Cavadino A, Jefferis BJ, Dale CE, Hypponen E, Morris RW, Casas JP, Kumari M, Ben-Shlomo Y, Gaunt TR, Drenos F, Langenberg C, Kuh D, Kivimaki M, Rueedi R, Waeber G, Hingorani AD, Price JF, Walker AP, UCLEB Consortium
  • Publication date:
    2016
  • Pagination:
    e0156914, ?
  • Journal:
    PLoS One
  • Volume:
    11
  • Issue:
    6
  • Status:
    Published online
  • Country:
    United States
  • PII:
    PONE-D-16-07914
  • Language:
    eng
  • Keywords:
    ABO Blood-Group System, DNA Replication, Erythrocytes, Ethnic Groups, Europe, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci
Abstract
Red blood cell (RBC) traits are routinely measured in clinical practice as important markers of health. Deviations from the physiological ranges are usually a sign of disease, although variation between healthy individuals also occurs, at least partly due to genetic factors. Recent large scale genetic studies identified loci associated with one or more of these traits; further characterization of known loci and identification of new loci is necessary to better understand their role in health and disease and to identify potential molecular mechanisms. We performed meta-analysis of Metabochip association results for six RBC traits-hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV) and red blood cell count (RCC)-in 11 093 Europeans from seven studies of the UCL-LSHTM-Edinburgh-Bristol (UCLEB) Consortium. We identified 394 non-overlapping SNPs in five loci at genome-wide significance: 6p22.1-6p21.33 (with HFE among others), 6q23.2 (with HBS1L among others), 6q23.3 (contains no genes), 9q34.3 (only ABO gene) and 22q13.1 (with TMPRSS6 among others), replicating previous findings of association with RBC traits at these loci and extending them by imputation to 1000 Genomes. We further characterized associations between ABO SNPs and three traits: hemoglobin, hematocrit and red blood cell count, replicating them in an independent cohort. Conditional analyses indicated the independent association of each of these traits with ABO SNPs and a role for blood group O in mediating the association. The 15 most significant RBC-associated ABO SNPs were also associated with five cardiometabolic traits, with discordance in the direction of effect between groups of traits, suggesting that ABO may act through more than one mechanism to influence cardiometabolic risk.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers Show More
Author
Clinical Epidemiology
Author
Population Science & Experimental Medici
Author
Institute of Cardiovascular Science
Author
Institute of Cardiovascular Science
Author
ICH Developmental Neurosciences Prog
Author
Primary Care & Population Health
Author
Epidemiology & Public Health
Author
Population Science & Experimental Medici
Author
Epidemiology & Public Health
Author
Primary Care & Population Health
Author
Genetics, Evolution & Environment
Author
ICH Pop, Policy & Practice Prog
Author
Institute of Cardiovascular Science
Author
Institute of Cardiovascular Science
Author
Population Science & Experimental Medici
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by